Canonical Allele Identifier: CA35816116

Gene: CFH

Linked Data

• dbSNP Id: rs267598268
• gnomAD v4: 1-196747197-G-A
• COSMIC: COSM228825
• MyVariant Identifiers: chr1:g.196716327G>A (hg19) ; chr1:g.196747197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747197G>A , CM000663.2:g.196747197G>A	GRCh38
NC_000001.10:g.196716327G>A , CM000663.1:g.196716327G>A	GRCh37
NC_000001.9:g.194982950G>A	NCBI36
NG_007259.1:g.100187G>A , LRG_47:g.100187G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4608G>A
ENST00000695970.1:c.3406G>A	ENSP00000512297.1:p.Gly1136Ser
ENST00000695971.1:c.3559G>A	ENSP00000512298.1:p.Gly1187Ser
ENST00000695972.1:c.*657G>A	ENSP00000512299.1:n.*657G>A
ENST00000695973.1:c.*1944G>A	ENSP00000512300.1:n.*1944G>A
ENST00000695974.1:c.3403G>A	ENSP00000512301.1:p.Gly1135Ser
ENST00000695975.1:c.*1707G>A	ENSP00000512302.1:n.*1707G>A
ENST00000695976.1:c.3391G>A	ENSP00000512303.1:p.Gly1131Ser
ENST00000695981.1:c.3580G>A	ENSP00000512306.1:p.Glu1194Lys
ENST00000695984.1:c.1588G>A	ENSP00000512309.1:p.Gly530Ser
ENST00000695986.1:c.*3231G>A	ENSP00000512311.1:n.*3231G>A
ENST00000695990.1:n.614G>A
ENST00000696026.1:c.*1862G>A	ENSP00000512335.1:n.*1862G>A
ENST00000696027.1:c.3574G>A	ENSP00000512336.1:p.Gly1192Ser
ENST00000696028.1:c.3508G>A	ENSP00000512337.1:p.Gly1170Ser
ENST00000696029.1:c.3574G>A	ENSP00000512338.1:p.Gly1192Ser
ENST00000696031.1:c.*3098G>A	ENSP00000512340.1:n.*3098G>A
ENST00000696032.1:c.3580G>A	ENSP00000512341.1:p.Val1194Met
ENST00000696033.1:c.1160-32600G>A	ENSP00000512342.1:n.1160-32600G>A
ENST00000367429.9:c.3580G>A MANE Select	ENSP00000356399.4:p.Gly1194Ser
ENST00000367429.8:c.3580G>A	ENSP00000356399.4:p.Gly1194Ser
ENST00000466229.5:n.6678G>A
NM_000186.3:c.3580G>A , LRG_47t1:c.3580G>A	NP_000177.2:p.Gly1194Ser
XR_001737134.2:n.3766G>A
NM_000186.4:c.3580G>A MANE Select	NP_000177.2:p.Gly1194Ser